DSCAM
The information for this summary of DSCAM-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full DSCAM gene guide
The online Gene Guide includes more information about DSCAM such as the chance of having another child with this condition, behavior and development concerns linked to DSCAM-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
What is DSCAM-related syndrome?
DSCAM-related syndrome happens when there are changes in the DSCAM gene. These changes can keep the gene from working as it should.
Key Role
The DSCAM gene plays a key role in the interactions between brain cells and their development.
Symptoms
Because the DSCAM gene is important for brain activity, many people who have DSCAM-related syndrome have:
- Developmental delay
- Intellectual disability
- Heart defects
- Autism
- Speech delays
How many people have DSCAM-related syndrome?
As of 2024, 6 people with DSCAM-related syndrome have been identified in a medical clinic. The first case of this condition was described in 2014. Scientists expect to find more people who have the syndrome as access to genetic testing improves.
Learn more about DSCAM and connect with other Simons Searchlight families with the resources below.
Support Resources
- Simons Searchlight Community – DSCAM Facebook group
- Geisinger Developmental Brain Disorder Gene Database – DSCAM
Research Article Summaries
We currently do not have any article summaries for DSCAM, but we add resources to our website as they become available. The information available about DSCAM is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow. Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for DSCAM articles can be found here. You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.
Research Opportunities
Simons Searchlight Help the Simons Searchlight team learn more about DSCAM genetic changes by taking part in our research. You can learn more about the project and sign up here.
Family Stories
We do not currently have any stories from DSCAM families. Click here to share your family’s story!